Canonical Allele Identifier: CA567498020

Gene: HCRTR2

Linked Data

• dbSNP Id: rs1279636481
• gnomAD v2: 6-55045026-G-A
• gnomAD v3: 6-55180228-G-A
• gnomAD v4: 6-55180228-G-A
• MyVariant Identifiers: chr6:g.55045026G>A (hg19) ; chr6:g.55180228G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000006.12:g.55180228G>A , CM000668.2:g.55180228G>A	GRCh38
NC_000006.11:g.55045026G>A , CM000668.1:g.55045026G>A	GRCh37
NC_000006.10:g.55152985G>A	NCBI36
NG_012447.1:g.10956G>A
NG_012447.2:g.78769G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000370862.4:c.223+5418G>A MANE Select	ENSP00000359899.3:n.223+5418G>A
ENST00000370862.3:c.223+5418G>A	ENSP00000359899.3:n.223+5418G>A
ENST00000615358.4:c.223+5418G>A	ENSP00000477548.1:n.223+5418G>A
NM_001526.3:c.223+5418G>A	NP_001517.2:n.223+5418G>A
NM_001526.4:c.223+5418G>A	NP_001517.2:n.223+5418G>A
XM_017010798.1:c.223+5418G>A	XP_016866287.1:n.223+5418G>A
NM_001384272.1:c.223+5418G>A MANE Select	NP_001371201.1:n.223+5418G>A
NM_001526.5:c.223+5418G>A	NP_001517.2:n.223+5418G>A